Which genes are associated with inflammatory bowel disease (IBD)?

Updated: Apr 10, 2020
  • Author: William A Rowe, MD; Chief Editor: BS Anand, MD  more...
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An early discovery on chromosome 16 (IBD1 gene) led to the identification of 3 single nucleotide polymorphisms (2 missense, 1 frameshift) in the NOD2 gene (now called CARD15) as the first gene (CARD15) clearly associated with IBD (as a susceptibility gene for Crohn disease). CARD15 is a polymorphic gene involved in the innate immune system. The gene has more than 60 variations, of which 3 play a role in 27% of patients with Crohn disease, primarily in patients with ileal disease.

Subsequent studies have suggested that the CARD15 genotype is associated not only with the onset of the disease but also with its natural history. A study on a German and Norwegian cohort showed that patients with 1 of the 3 identified risk alleles for CARD15 were more likely to have either ileal or right colonic disease. [15, 16] These gene products appear to be involved in the intracellular innate immune pathways that recognize microbial products in the cytoplasm.

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